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rs199472724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472724(C;T)
Make rs199472724(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2572859
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199472724
ebirs199472724
HLIrs199472724
Exacrs199472724
Varsomers199472724
Maprs199472724
PheGenIrs199472724
hapmaprs199472724
1000 genomesrs199472724
hgdprs199472724
ensemblrs199472724
gopubmedrs199472724
geneviewrs199472724
scholarrs199472724
googlers199472724
pharmgkbrs199472724
gwascentralrs199472724
openSNPrs199472724
23andMers199472724
23andMe allrs199472724
SNP Nexus

SNPshotrs199472724
SNPdbers199472724
MSV3drs199472724
GWAS Ctlgrs199472724
Max Magnitude0
ClinVar
Risk rs199472724(T;T)
Alt rs199472724(T;T)
Reference rs199472724(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000011.9:g.2594089C>T
CLNSRC ClinVar
CLNACC RCV000046129.2, RCV000057762.2, RCV000182115.1,